vendredi 29 novembre 2013

Rare Genetic Mutation Lets Some People Function with Less Sleep

Rare Genetic Mutation Lets Some People Function with Less Sleep

Ever wished you could get by with less sleep? Some people can--and don't seem to be any worse off for it--thanks, possibly, to one unusual mutation
For something so essential and basic, sleep has turned out to be a complicated biological nightmare for scientists. Certain genes, such as CLOCK and BMAL1, have been pegged for their roles in the body's circadian rhythm, but the full cast of characters involved in moderating the process of sleep remains fuzzy.

But thanks to a mother and daughter who share a rare genetic mutation—and who routinely need just six hours of sleep a night—researchers have recently taken a step forward in the journey to unravel the tangled genetic web of sleep.

The new study, published online today inScience, reports the discovery of a genetic mutation on the gene DEC2 that appears to allow the mother–daughter pair of "short sleepers"—and a handful of transgenic mice—to truly need less sleep.

"We know sleep is necessary for survival," says co-author Ying-Hui Fu, a professor ofneurology at the University of California, San Francisco. But, "we don't know anything about how it's regulated," she adds.

Sleep requirements seem to follow a typical curve in the general population, with most people needing between seven and eight hours nightly. Only about 5 percent of the population can get by just fine on six hours of sleep, notes Fu.

"In normal sleepers, if you reduce their duration to six hours, after a few days you will see some negative impact," explains Mehdi Tafti, an associate professor at the Center for Integrative Genomics at the University of Lausanne in Switzerland, who wrote the accompanying perspectives piece and wasn't involved in the study. "And no one should sleep-deprive him or herself."

Despite only getting an average of 6.25 hours of sleep a night in the study, both the 17-year-old daughter and the mother in her late 40s seemed to be perfectly healthy and well-rested, Fu notes. "They feel just fine," she says. Unlike the rest of their family members (who needed an average of about eight hours of slumber), they had a mutation on the DEC2 transcription facilitator, which is involved in the circadian clock, among other functions. But was this the sole cause of the curtailed sleep needs?

To further investigate the gene and its impact on the body, the researchers studied transgenic mice with the introduced mutation. These experimental animalsexperienced a daily activity period about 1.2 hours longer than their nonmutant compatriots. Removing Dec2 in mice, however, did not generate the same wakefulness, and instead the genetic knockout mice actually slept a little bit more.

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